rs6922541

Variant names:

• chr6-135161681-A-C
• rs6922541

Your query was ambiguous. Multiple possible variants found:

• chr6-135161681-A-C
• chr6-135161681-A-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.512 in 151,968 control chromosomes in the GnomAD database, including 22,148 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.51 (22148 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.117
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.768 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.512 AC: 77698 AN: 151850 Hom.: 22098 Cov.: 31

Gnomad AFR AF: 0.775

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.341

Gnomad EAS AF: 0.504

Gnomad SAS AF: 0.573

Gnomad FIN AF: 0.388

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.501

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.512 AC: 77810 AN: 151968 Hom.: 22148 Cov.: 31 AF XY: 0.510 AC XY: 37860 AN XY: 74232

African (AFR) AF: 0.775 AC: 32124 AN: 41438

American (AMR) AF: 0.462 AC: 7060 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.341 AC: 1181 AN: 3468

East Asian (EAS) AF: 0.504 AC: 2596 AN: 5152

South Asian (SAS) AF: 0.572 AC: 2758 AN: 4820

European-Finnish (FIN) AF: 0.388 AC: 4087 AN: 10538

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.391 AC: 26578 AN: 67966

Other (OTH) AF: 0.504 AC: 1063 AN: 2110

Alfa AF: 0.440 Hom.: 11219

Bravo AF: 0.530

Asia WGS AF: 0.590 AC: 2050 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.7
DANN	Benign	0.49
PhyloP100		-0.12

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs6922541; hg19: chr6-135482819;